Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Igor Medica"'
Publikováno v:
Open Medicine, Vol 4, Iss 4, Pp 395-408 (2009)
Folate metabolism deficiency has been related to increased occurrence of maternal non-disjunction resulting in trisomy 21. Several polymorphisms in genes coding for folate metabolism enzymes have been investigated for association with the maternal ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9122cf419d1ea31c0f72be4e985017c
https://doi.org/10.2478/s11536-009-0055-0
https://doi.org/10.2478/s11536-009-0055-0
Publikováno v:
ResearcherID
Scopus-Elsevier
Scopus-Elsevier
A meta-analysis of association studies was performed to assess whether the reported genetic polymorphisms in cytokine genes are risk factors for recurrent miscarriage (RM). The electronic PubMed database was searched for case– control studies on im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b858927a313ff51eb6839d7a30f7b4
https://doi.org/10.1016/s1472-6483(10)60176-9
https://doi.org/10.1016/s1472-6483(10)60176-9
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 21:463-468
Objective. To investigate, in a prospective study, the incidence of homozygotes and heterozygotes of the 35delG/GJB2 mutation for connexin 26 in the low-risk population of newborns undergoing two-stage universal neonatal hearing screening (UNHS). Pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b816bdc751fee651b9ced65a84255351
https://doi.org/10.1080/14767050802123975
https://doi.org/10.1080/14767050802123975
Publikováno v:
Journal of Human Genetics. 52:123-128
Myotonic dystrophy 1 (DM1) is known to diminish reproductive fitness in its severe form. Since no de novo mutations are known for this disease, it has the tendency to become extinct from a population. To explain the preservation of DM1 in a populatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea9d2a1def9c608e01af5e6603d0113b
https://doi.org/10.1007/s10038-006-0091-4
https://doi.org/10.1007/s10038-006-0091-4
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 15(12)
The search for gene candidates in multifactorial diseases such as sarcoidosis can be based on the integration of linkage association data, gene expression data, and protein profile data from genomic, transcriptomic and proteomic studies, respectively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ce260a9d6846d3c6efe9e0e0af0cfac
https://pubmed.ncbi.nlm.nih.gov/19946248
https://pubmed.ncbi.nlm.nih.gov/19946248
Autor:
Barbara, Salobir, Igor, Medica, Marjeta, Tercelj, Andrej, Kastrin, Miso, Sabovic, Borut, Peterlin
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 13(12)
Sarcoidosis is a multisystemic chronic inflammatory disorder of unknown etiology with multifactorial genetic predisposition. An elevated ACE serum level is considered to be the activity marker of the disease. The involvement of the ACE I/D polymorphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::034dd15ce967fd1ca742d77d30959947
https://pubmed.ncbi.nlm.nih.gov/18049432
https://pubmed.ncbi.nlm.nih.gov/18049432
Publikováno v:
ResearcherID
Sarcoidosis is a chronic inflammatory disease characterised by granulomatous inflammation in various organs. As genetic factors have been implicated in its aetiology, in our study we investigated whether the promotor polymorphisms in three genes codi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::267bc127bd9d14b441efcbf696f71376
https://doi.org/10.3892/ijmm.20.3.385
https://doi.org/10.3892/ijmm.20.3.385
Publikováno v:
Annals of hematology. 87(8)
Dear Editor, Hereditary hemochromatosis (HH; HFE-related or type 1 genetic hemochromatosis) is a common autosomal recessive disorder of iron metabolism, its prevalence being two to five per 1,000 in Caucasians, characterized by increased iron absorpt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d193d843744d54e46772997bef6ea2
https://pubmed.ncbi.nlm.nih.gov/18317757
https://pubmed.ncbi.nlm.nih.gov/18317757
Publikováno v:
Journal of human genetics. 52(10)
A great number of association studies have been performed to identify the genes involved in the etiology and prognosis of sarcoidosis. We performed a systematic review of case-control studies through the PubMed database and evaluated them for a possi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd1bb60b39541b85ba2c45636097b4f4
https://pubmed.ncbi.nlm.nih.gov/17768594
https://pubmed.ncbi.nlm.nih.gov/17768594
Autor:
Helena Meden-Vrtovec, Borut Peterlin, Marija Volk, Saša Ostojić, Miljenko Kapović, Igor Medica
Problem Interleukin (IL) IL-12/IL-18 are involved in uterine NK cells control of uterine vascular development. Polymorphisms in the IL-12/IL-18 genes could modify the cytokine balance, which might result in an increased susceptibility to recurrent sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1348840daaa4ff6ed162a7e47eaacfe
https://www.bib.irb.hr/398750
https://www.bib.irb.hr/398750
